Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452462A>G , CM000667.2:g.119452462A>G | GRCh38 |
| NC_000005.9:g.118788157A>G , CM000667.1:g.118788157A>G | GRCh37 |
| NC_000005.8:g.118816056A>G | NCBI36 |
| NG_008182.1:g.5010A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256216.10:c.-114A>G | ENSP00000256216.6:n.-114A>G | |
| NM_000414.3:c.-114A>G | NP_000405.1:n.-114A>G | |
| NM_001199292.1:c.-114A>G | NP_001186221.1:n.-114A>G | |
| NM_001292027.1:c.-251A>G | NP_001278956.1:n.-251A>G |